Incidental Mutation 'R1567:Selenop'
ID 175373
Institutional Source Beutler Lab
Gene Symbol Selenop
Ensembl Gene ENSMUSG00000064373
Gene Name selenoprotein P
Synonyms Sepp1, Se-P, D15Ucla1, selp
MMRRC Submission 039606-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R1567 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 3300249-3309992 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 3309180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 377 (*377W)
Ref Sequence ENSEMBL: ENSMUSP00000124305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082424] [ENSMUST00000159158] [ENSMUST00000159216] [ENSMUST00000160311] [ENSMUST00000160787] [ENSMUST00000160930] [ENSMUST00000165386] [ENSMUST00000226261] [ENSMUST00000228405]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000082424
AA Change: *377W
SMART Domains Protein: ENSMUSP00000081004
Gene: ENSMUSG00000064373
AA Change: *377W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 248 5.4e-119 PFAM
Pfam:SelP_C 249 380 2.6e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159158
SMART Domains Protein: ENSMUSP00000125632
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 124 5.4e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159216
AA Change: *377W
SMART Domains Protein: ENSMUSP00000124305
Gene: ENSMUSG00000064373
AA Change: *377W

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 23 268 9.3e-108 PFAM
Pfam:SelP_C 249 380 4.9e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159247
Predicted Effect probably benign
Transcript: ENSMUST00000160311
SMART Domains Protein: ENSMUSP00000124580
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:SelP_N 32 110 2.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160787
SMART Domains Protein: ENSMUSP00000124852
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 139 1.6e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160930
SMART Domains Protein: ENSMUSP00000125505
Gene: ENSMUSG00000064373

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:SelP_N 22 177 1.9e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165386
SMART Domains Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119

DomainStartEndE-ValueType
coiled coil region 76 186 N/A INTRINSIC
coiled coil region 211 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226261
Predicted Effect probably benign
Transcript: ENSMUST00000228405
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in mouse), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. Alternatively spliced transcript variants differing in 5' non-coding region have been described for this gene. Expression of these variants varies in different tissues and developmental stages (PMID:23064117). [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for targeted null mutations exhibit ataxia, spasticity, impaired growth, reduced male fertility, and excess mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,030,352 (GRCm39) V155I probably benign Het
Actrt2 T C 4: 154,751,371 (GRCm39) Q255R possibly damaging Het
Adar A T 3: 89,643,088 (GRCm39) H323L probably benign Het
Adgrg5 T A 8: 95,664,326 (GRCm39) V312E probably damaging Het
Anapc1 T C 2: 128,459,636 (GRCm39) T1808A probably damaging Het
Aox3 C A 1: 58,233,852 (GRCm39) A1285E probably damaging Het
Arhgap40 T A 2: 158,388,719 (GRCm39) L551Q probably damaging Het
Blk A G 14: 63,618,178 (GRCm39) S243P probably damaging Het
Cfap206 G T 4: 34,716,490 (GRCm39) A325E probably benign Het
Cimap1b C A 15: 89,261,981 (GRCm39) R137L probably benign Het
Cnn3 A T 3: 121,243,607 (GRCm39) K23* probably null Het
Cog8 G A 8: 107,780,740 (GRCm39) R173* probably null Het
Col11a1 G A 3: 113,932,261 (GRCm39) R880H unknown Het
Cyp2c40 T C 19: 39,792,215 (GRCm39) Q243R probably null Het
Dcbld1 A G 10: 52,195,752 (GRCm39) E391G probably damaging Het
Dchs1 C A 7: 105,421,068 (GRCm39) A451S probably benign Het
Ddx43 A G 9: 78,323,991 (GRCm39) K441E probably damaging Het
Depdc1a A T 3: 159,228,177 (GRCm39) I310F possibly damaging Het
Dnah17 C T 11: 118,016,811 (GRCm39) V247M probably damaging Het
Dtd1 G T 2: 144,588,945 (GRCm39) G201V probably damaging Het
Eif1ad3 A T 12: 87,843,754 (GRCm39) I134F unknown Het
Enoph1 G A 5: 100,208,884 (GRCm39) G80S probably benign Het
Fam76a A T 4: 132,645,039 (GRCm39) Y48* probably null Het
Fut9 T G 4: 25,620,344 (GRCm39) T157P probably damaging Het
Gm57859 T A 11: 113,578,728 (GRCm39) V41D probably damaging Het
Gtpbp1 T C 15: 79,596,391 (GRCm39) I310T probably damaging Het
Hk3 T A 13: 55,154,418 (GRCm39) I753F probably damaging Het
Hnrnpl G T 7: 28,519,608 (GRCm39) A419S possibly damaging Het
Ighv5-6 T C 12: 113,589,528 (GRCm39) probably benign Het
Itpkb A G 1: 180,249,423 (GRCm39) T933A probably benign Het
Kcnn2 T G 18: 45,803,401 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lmcd1 C T 6: 112,287,526 (GRCm39) R71C probably damaging Het
Mrgprb1 A T 7: 48,097,201 (GRCm39) V237E probably damaging Het
Mybl1 T A 1: 9,755,976 (GRCm39) E191V probably damaging Het
Nbas T A 12: 13,335,279 (GRCm39) F158I possibly damaging Het
Nbr1 C G 11: 101,466,037 (GRCm39) L748V probably damaging Het
Nlrp10 G A 7: 108,526,257 (GRCm39) T27M probably benign Het
Notch3 G A 17: 32,377,554 (GRCm39) T174I possibly damaging Het
Nup85 T A 11: 115,459,224 (GRCm39) I109K possibly damaging Het
Or10h28 A G 17: 33,488,450 (GRCm39) I251V probably benign Het
Or2b28 A T 13: 21,531,595 (GRCm39) I166L probably benign Het
Or2n1e A G 17: 38,586,459 (GRCm39) I266V possibly damaging Het
Or4c12b T C 2: 89,647,528 (GRCm39) L280P probably damaging Het
Or4k48 G T 2: 111,476,271 (GRCm39) Q24K possibly damaging Het
Or5b105 T C 19: 13,080,006 (GRCm39) T221A probably benign Het
Phf2 T C 13: 48,985,589 (GRCm39) K64E unknown Het
Polr2a T C 11: 69,636,857 (GRCm39) T365A probably benign Het
Prkcd A G 14: 30,329,405 (GRCm39) C12R probably benign Het
Ptprq T C 10: 107,401,748 (GRCm39) I1915V probably benign Het
Rcbtb2 G A 14: 73,399,902 (GRCm39) V112I probably benign Het
Rxfp3 A G 15: 11,036,187 (GRCm39) V395A probably benign Het
Ryr2 C A 13: 11,774,563 (GRCm39) G1198C possibly damaging Het
Scn1a T A 2: 66,103,675 (GRCm39) I1851F probably damaging Het
Sema4a A T 3: 88,359,353 (GRCm39) C113S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Speg T C 1: 75,404,691 (GRCm39) S2575P probably benign Het
Stk24 T A 14: 121,545,468 (GRCm39) I97L probably benign Het
Tap2 A G 17: 34,433,065 (GRCm39) K449R probably benign Het
Tecpr2 T A 12: 110,908,030 (GRCm39) probably null Het
Ttn T A 2: 76,727,955 (GRCm39) probably benign Het
Uggt2 A G 14: 119,246,505 (GRCm39) F1204L possibly damaging Het
Ugt2b36 T C 5: 87,240,258 (GRCm39) I42M probably damaging Het
Zdhhc8 A G 16: 18,044,984 (GRCm39) L274P probably benign Het
Zfp974 C A 7: 27,610,148 (GRCm39) D526Y probably damaging Het
Other mutations in Selenop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Selenop APN 15 3,306,755 (GRCm39) missense probably benign 0.20
IGL01937:Selenop APN 15 3,308,750 (GRCm39) missense probably benign 0.37
IGL03280:Selenop APN 15 3,310,104 (GRCm39) unclassified probably benign
R0508:Selenop UTSW 15 3,305,202 (GRCm39) missense probably benign 0.02
R0603:Selenop UTSW 15 3,305,183 (GRCm39) missense probably damaging 1.00
R1982:Selenop UTSW 15 3,305,176 (GRCm39) missense probably damaging 1.00
R5107:Selenop UTSW 15 3,305,075 (GRCm39) missense probably damaging 1.00
R6216:Selenop UTSW 15 3,308,947 (GRCm39) missense probably damaging 1.00
R6245:Selenop UTSW 15 3,304,216 (GRCm39) missense probably damaging 1.00
R7420:Selenop UTSW 15 3,309,052 (GRCm39) missense probably damaging 0.96
R7673:Selenop UTSW 15 3,304,340 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGTGCGGAAAACCTCCCATC -3'
(R):5'- GCAGTGCAACTCAAGCTAGGACTC -3'

Sequencing Primer
(F):5'- CCATCCTTATGTAGCTGACAGG -3'
(R):5'- GCAGTCACTTTTCAGGTGC -3'
Posted On 2014-04-24